ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln)

gnomAD frequency: 0.00001  dbSNP: rs371323193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870377 SCV002120323 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRP5 protein function. This sequence change replaces arginine with glutamine at codon 1078 of the LRP5 protein (p.Arg1078Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371323193, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002506894 SCV002816148 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2021-12-21 criteria provided, single submitter clinical testing

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